Cholesteryl ester storage disease: Case report during childhood


Akcoren Z., Gogus S., Kocak N., Gurakan F., Ozen H., Yuce A.

PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, vol.2, no.6, pp.574-576, 1999 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 2 Issue: 6
  • Publication Date: 1999
  • Doi Number: 10.1007/s100249900164
  • Journal Name: PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.574-576
  • Hacettepe University Affiliated: Yes

Abstract

Cholesteryl ester storage disease (CESD) is rare and characterized by accumulation of cholesteryl esters and triglycerides in many tissues due to the deficiency of lysosomal acid lipase. We report a 3 1/2-year-old child with CESD. The diagnosis was indicated by liver biopsy and confirmed by reduced acid Lipase activity in leukocytes.